Ramsden SC - Search Results

1

A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents-the first cases of gonadal mosaicism in CFC?

Geoghegan S, King G, Henchliffe J, Ramsden SC, Barry RJ, Green AJ, O'Connell SM. Geoghegan S, et al. Among authors: ramsden sc. Am J Med Genet A. 2018 Jul;176(7):1637-1640. doi: 10.1002/ajmg.a.38725. Epub 2018 Apr 28. Am J Med Genet A. 2018. PMID: 29704308

2

Challenge for a new era-importance of ensuring accuracy of genotype in cystic fibrosis registries.

Hartley CL, Barry PJ, Green H, Henchliffe J, Brock J, Tobi SE, Ramsden SC, Horsley AR. Hartley CL, et al. Among authors: ramsden sc. J Cyst Fibros. 2016 Sep;15(5):e50-1. doi: 10.1016/j.jcf.2016.03.003. Epub 2016 Apr 9. J Cyst Fibros. 2016. PMID: 27067634 Free article. No abstract available.

3

Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms.

Redwood A, Douzgou S, Waller S, Ramsden S, Roberts A, Bonin H, Lloyd IC, Ashworth J, Black GCM, Clayton-Smith J. Redwood A, et al. Eur J Med Genet. 2020 Feb;63(2):103658. doi: 10.1016/j.ejmg.2019.04.015. Epub 2019 Apr 30. Eur J Med Genet. 2020. PMID: 31048080

4

Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families.

Gilbert HL, Buxton JL, Chan CT, McKay T, Cottrell S, Ramsden S, Winter RM, Pembrey ME, Malcolm S. Gilbert HL, et al. J Med Genet. 1997 Aug;34(8):651-5. doi: 10.1136/jmg.34.8.651. J Med Genet. 1997. PMID: 9279757 Free PMC article.

5

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.

Watson P, Black G, Ramsden S, Barrow M, Super M, Kerr B, Clayton-Smith J. Watson P, et al. J Med Genet. 2001 Apr;38(4):224-8. doi: 10.1136/jmg.38.4.224. J Med Genet. 2001. PMID: 11283202 Free PMC article.

6

Detection of a deletion of exons 8-16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assay.

Boyes L, Wallace AJ, Krajewska-Walasek M, Chrzanowska KH, Clayton-Smith J, Ramsden S. Boyes L, et al. Eur J Med Genet. 2006 Nov-Dec;49(6):472-80. doi: 10.1016/j.ejmg.2006.04.004. Epub 2006 May 19. Eur J Med Genet. 2006. PMID: 16740422

7

Severe neonatal-onset panniculitis in a female infant with Prader-Willi syndrome.

Sakthivel M, Hughes SM, Riley P, Arkwright PD, Mukherjee A, Ramsden S, Urquhart J, Crow YJ. Sakthivel M, et al. Am J Med Genet A. 2011 Dec;155A(12):3087-9. doi: 10.1002/ajmg.a.34318. Epub 2011 Nov 3. Am J Med Genet A. 2011. PMID: 22052851

8

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.

O'Sullivan J, Mullaney BG, Bhaskar SS, Dickerson JE, Hall G, O'Grady A, Webster A, Ramsden SC, Black GC. O'Sullivan J, et al. Among authors: ramsden sc. J Med Genet. 2012 May;49(5):322-6. doi: 10.1136/jmedgenet-2012-100847. J Med Genet. 2012. PMID: 22581970

9

Molecular findings from 537 individuals with inherited retinal disease.

Ellingford JM, Barton S, Bhaskar S, O'Sullivan J, Williams SG, Lamb JA, Panda B, Sergouniotis PI, Gillespie RL, Daiger SP, Hall G, Gale T, Lloyd IC, Bishop PN, Ramsden SC, Black GCM. Ellingford JM, et al. Among authors: ramsden sc. J Med Genet. 2016 Nov;53(11):761-767. doi: 10.1136/jmedgenet-2016-103837. Epub 2016 May 11. J Med Genet. 2016. PMID: 27208204 Free PMC article.

10

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.

Ellingford JM, Horn B, Campbell C, Arno G, Barton S, Tate C, Bhaskar S, Sergouniotis PI, Taylor RL, Carss KJ, Raymond LFL, Michaelides M, Ramsden SC, Webster AR, Black GCM. Ellingford JM, et al. Among authors: ramsden sc. J Med Genet. 2018 Feb;55(2):114-121. doi: 10.1136/jmedgenet-2017-104791. Epub 2017 Oct 26. J Med Genet. 2018. PMID: 29074561 Free PMC article.

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